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Article

TRPV4 mutations in children with congenital distal spinal muscular atrophy.

Neurogenetics - 1 Aug 2012

Fiorillo Chiara, Moro Francesca, Brisca Giacomo, Astrea Guja, Nesti Claudia, Bálint Zoltán, Olschewski Andrea, Meschini Maria Chiara, Guelly Christian, Auer-Grumbach Michaela, Battini Roberta, Pedemonte Marina, Romano Alessandro, Menchise Valeria, Biancheri Roberta, Santorelli Filippo M, Bruno Claudio

Abstract excerpt

Inherited disorders characterized by motor neuron loss and muscle weakness are genetically heterogeneous. The recent identification of mutations in the gene encoding transient receptor potential vanilloid 4 (TRPV4) in distal spinal muscular atrophy (dSMA) prompted us to screen for TRPV4 mutations in a small group of children with compatible phenotype. In a girl with dSMA and vocal cord paralysis, we detected a...

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Identifiers

PMID: 22526352
DOI: 10.1007/s10048-012-0328-7

Genes

TRPV4

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TRPV4 mutations in children with congenital distal spinal muscular atrophy.PMID 22526352Read ↗

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